Polymorphisms in the SOX9 region and testicular disorder of sex development (38,XX; SRY-negative) in pigs
Sign Up to like & getrecommendations! Published in 2017 at "Livestock Science"
DOI: 10.1016/j.livsci.2017.07.002
Abstract: Abstract Testicular XX disorder of sex development (XX DSD, SRY -negative), causing sterility, is quite frequently diagnosed in pig populations, however, its molecular background is still unknown. This disorder may affect carcass quality (boar taint)… read more here.
Keywords: sox9 gene; testicular disorder; disorder sex; region ... See more keywords
Oral methylene blue treatment in a dog with cytochrome b5 reductase deficiency and 78, XX testicular disorder of sex development.
Sign Up to like & getrecommendations! Published in 2022 at "Topics in companion animal medicine"
DOI: 10.1016/j.tcam.2022.100649
Abstract: A 6-month-old mixed breed dog was referred for evaluation of a potential disorder of sex development (DSD) and lower than expected energy level. Genitourinary examination revealed ambiguous external genitalia, hypospadias, and a subtle pouch of… read more here.
Keywords: disorder sex; dog; cytochrome reductase; deficiency ... See more keywords
Ovotesticular Disorder of Sex Development Presenting as an Acute Scrotum.
Sign Up to like & getrecommendations! Published in 2018 at "Urology"
DOI: 10.1016/j.urology.2017.12.025
Abstract: Hermaphroditism is known as ovotesticular disorder of sex development. A 14-year-old boy was admitted with right acute scrotum. Exploration revealed tunica rupture and hematoma, with no viable tissue. After 1 month, he was admitted again… read more here.
Keywords: acute scrotum; disorder sex; ovotesticular disorder; sex development ... See more keywords
Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.15
Abstract: Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2–3 toe… read more here.
Keywords: lemli opitz; opitz syndrome; sex development; smith lemli ... See more keywords
Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development.
Sign Up to like & getrecommendations! Published in 2018 at "Human reproduction"
DOI: 10.1093/humrep/dey215
Abstract: Empty follicle syndrome (EFS) is a disorder associated with female infertility and presents as a complete failure to retrieve oocytes during ART cycles despite normal follicle development and careful aspiration. To date, only two EFS… read more here.
Keywords: novel homozygous; follicle syndrome; follicle; disorder sex ... See more keywords
Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases
Sign Up to like & getrecommendations! Published in 2020 at "Andrologia"
DOI: 10.1111/and.13739
Abstract: 46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in… read more here.
Keywords: sex development; sry positive; sex; disorder sex ... See more keywords
Descriptive Study of Gender Dysphoria and Sexual Behavior in a Disorder of Sex Development Group
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Psychology"
DOI: 10.3389/fpsyg.2022.652030
Abstract: Disorder of Sex Development (DSD) refers to a heterogeneous group of congenital conditions in which chromosomal, gonadal, and anatomical sex are atypical. Typically, the diagnosis is made at birth or infancy and interventional actions are… read more here.
Keywords: disorder sex; group; gender dysphoria; dsd ... See more keywords